PPP1CB

protein phosphatase 1 catalytic subunit beta
OMIM: 600590, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red PPP1CB in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.91

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome-like disorder with loose anagen hair 2 (MIM#617506)

Green PPP1CB in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.151

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PPP1CB in Mendeliome


Version 1.3512

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome-like disorder with loose anagen hair 2, OMIM # 617506

Green PPP1CB in Rasopathy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.108

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Noonan syndrome-like disorder with loose anagen hair 2
  • OMIM # 617506

Amber PPP1CB in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Noonan syndrome-like disorder with loose anagen hair 2 MIM#617506

    Green PPP1CB in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Noonan syndrome-like disorder with loose anlagen hair 2, OMIM # 617506

    Green PPP1CB in Lymphoedema_syndromic

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 0.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • 0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Noonan syndrome-like disorder with loose anagen hair 2 617506

    Green PPP1CB in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

    0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • London South GLH
    • Expert List
    • NHS GMS
    Phenotypes
    • Rasopathy with developmental delay, short stature and sparse slow-growing hair
    • Noonan syndrome-like disorder with loose anagen hair 2, 617506

    Green PPP1CB in Growth failure


    Version 1.83

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Noonan syndrome-like disorder with loose anagen hair 2
    • OMIM # 617506

    Green PPP1CB in Fetal anomalies


    Version 1.465

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    • Genetic Health Queensland
    Phenotypes
    • Noonan syndrome-like disorder with loose anlagen hair 2, OMIM # 617506